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Investigation and management of hypocalcaemia

Archives of Disease in Childhood, 2020-04, Vol.105 (4), p.399-405

2020

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New Developments in the Treatment of X-Linked Hypophosphataemia: Implications for Clinical Management

Paediatric drugs, 2020-04, Vol.22 (2), p.113-121

2020

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Hypophosphatasia mimicking hypoxic–ischaemic encephalopathy: early recognition and management

Archives of disease in childhood, 2021-02, Vol.106 (2), p.189-191

2021

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Heterozygous CDC73 mutation causing hyperparathyroidism in children and adolescents: a report of 2 cases

Journal of Pediatric Endocrinology and Metabolism, 2022-12, Vol.35 (12), p.1547-1551

2022

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Molecular genetics of growth hormone deficient children: correlation with auxology and response to first year of growth hormone therapy

Journal of Pediatric Endocrinology and Metabolism, 2017-05, Vol.30 (6), p.669-675

2017

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Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5' exonuclease based assay

Journal of Pediatric Endocrinology and Metabolism, 2014-09, Vol.27 (9-10), p.869

2014

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SUN-525 Burosumab Experience In A UK Adolescent Population

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

2019

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SUN-524 Burosumab Initiation In A UK XLH Cohort: Real-World Use Resonates With Research Evidence

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

2019

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Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling

Indian journal of human genetics, 2013-10, Vol.19 (4), p.475

2013

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Prevalence of overweight and obesity in children with bone fragility and its correlation with disease severity and fracture rate

Endocrine Abstracts, 2022-10

2022

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Detection of Carrier Status and Mutations in Family Members of a Child with Complete Deletion of the DAX1 Gene using Multiplex Ligation-Dependent Probe Amplification

Indian journal of pediatrics, 2013-08, Vol.80 (8), p.704-705

2013

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Clinical decision making based on LHRH test: an audit of practice in a tertiary center

Endocrine Abstracts, 2024-09

2024

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Rapid-onset obesity, hypothalamic and autonomic dysregulation with neuroendocrine tumours: Can this be ROHHADNET?

Endocrine Abstracts, 2021-11

2021

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Determinants of survival in osteogenesis imperfecta (OI) Type II

Bone Abstracts, 2019-07

2019

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Successful use of oral acetazolamide in symptomatic subcutaneous calcifications in hyperphosphatemic tumoral calcinosis

Bone Abstracts, 2019-07

2019

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Burosumab initiation in a UK XLH cohort: real-world use resonates with research evidence

Endocrine Abstracts, 2019-11

2019

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Burosumab experience in UK XLH children under five years old

Endocrine Abstracts, 2019-11

2019

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Investigation and management of hypocalcaemia

New Developments in the Treatment of X-Linked Hypophosphataemia: Implications for Clinical Management

Hypophosphatasia mimicking hypoxic–ischaemic encephalopathy: early recognition and management

Heterozygous CDC73 mutation causing hyperparathyroidism in children and adolescents: a report of 2 cases

Molecular genetics of growth hormone deficient children: correlation with auxology and response to first year of growth hormone therapy

Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5' exonuclease based assay

SUN-525 Burosumab Experience In A UK Adolescent Population

SUN-524 Burosumab Initiation In A UK XLH Cohort: Real-World Use Resonates With Research Evidence

Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling

Prevalence of overweight and obesity in children with bone fragility and its correlation with disease severity and fracture rate

Detection of Carrier Status and Mutations in Family Members of a Child with Complete Deletion of the DAX1 Gene using Multiplex Ligation-Dependent Probe Amplification

Clinical decision making based on LHRH test: an audit of practice in a tertiary center

Rapid-onset obesity, hypothalamic and autonomic dysregulation with neuroendocrine tumours: Can this be ROHHADNET?

Determinants of survival in osteogenesis imperfecta (OI) Type II

Successful use of oral acetazolamide in symptomatic subcutaneous calcifications in hyperphosphatemic tumoral calcinosis

Burosumab initiation in a UK XLH cohort: real-world use resonates with research evidence

Burosumab experience in UK XLH children under five years old

Burosumab experience in UK X-linked hypophosphataemia children under five years old

Burosumab initiation in a UK X-linked hypophosphataemia cohort: real-world use resonates with research evidence

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